# Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/underrepresentation-of-phenotypic-variability-of-16p13-11-microduplication/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Jianqiao Li,Margaret A. Hojlo,Sampath Chennuri,Nitin Gujral,Heather Paterson,Kent Shefchek,Casie A. Genetti,Emily Cohn,Kara Sewalk,Emily A. Garvey,Elizabeth D. Buttermore,Nickesha C. Anderson,Alan H. Beggs,Pankaj B. Agrawal,John S. Brownstein,Melissa Haendel,Ingrid A. Holm,Joseph Gonzalez–Heydrich,Catherine A. Brownstein |
| Citations | 13 |
| DOI | 10.2196/21023 |
| Fields | Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology,Neuroscience |
| Open Access | true |
| OA Status | gold |
| OA URL | https://www.jmir.org/2021/3/e21023/PDF |
| OpenAlex ID | https://openalex.org/W3136843123 |
| PMID | 33724192 |
| Type | article |
| Year | 2021 |

## Paper authors

- [Margaret A. Hojlo](https://scholariq.org/researchers/margaret-a-hojlo/)

## Paper journal

- [Journal of Medical Internet Research](https://scholariq.org/journals/journal-of-medical-internet-research/)

## Paper primary topic

- [Williams Syndrome Research](https://scholariq.org/topics/williams-syndrome-research/)

## Paper topics

- [Williams Syndrome Research](https://scholariq.org/topics/williams-syndrome-research/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Immunodeficiency and Autoimmune Disorders](https://scholariq.org/topics/immunodeficiency-and-autoimmune-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.